Article
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
Brain : a journal of neurology - 17 Aug 2021
Bleakley Lauren E, McKenzie Chaseley E, Soh Ming S, Forster Ian C, Pinares-Garcia Paulo, Sedo Alicia, Kathirvel Anirudh, Churilov Leonid, Jancovski Nikola, Maljevic Snezana, Berkovic Samuel F, Scheffer Ingrid E, Petrou Steven, Santoro Bina, Reid Christopher A
Abstract excerpt
Pathogenic variants in HCN1 are associated with developmental and epileptic encephalopathies. The recurrent de novo HCN1 M305L pathogenic variant is associated with severe developmental impairment and drug-resistant epilepsy. We engineered the homologue Hcn1 M294L heterozygous knock-in (Hcn1M294L) mouse to explore the disease mechanism underlying an HCN1 developmental and epileptic encephalopathy. The Hcn1M294L...
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